What is the pathophysiology of achondroplasia?
What is the pathophysiology of achondroplasia?
Achondroplasia is caused by mutations in the fibroblast growth factor receptor-3 (FGFR3) gene. Mutations within FGFR3 are the only genetic changes known to cause achondroplasia. FGFR3 has been mapped to the short arm of chromosome 4, p16.
How does FGFR3 cause achondroplasia?
Achondroplasia is caused by a gene alteration (mutation) in the FGFR3 gene. The FGFR3 gene makes a protein called fibroblast growth factor receptor 3 that is involved in converting cartilage to bone. FGFR3 is the only gene known to be associated with achondroplasia.
What genotype is achondroplasia?
In the case of achondroplasia, the homozygous dominant genotype results in a lethal phenotype. These fetuses are stillborn or die shortly after birth. The phenotype is determined by a dominant allele that interferes with bone growth during development.
What type of malformation is achondroplasia?
Achondroplasia is a genetic disorder whose primary feature is dwarfism. In those with the condition, the arms and legs are short, while the torso is typically of normal length….
| Achondroplasia | |
|---|---|
| Risk factors | Paternal age |
| Diagnostic method | Based on symptoms, genetic testing if uncertain |
How is the FGFR3 gene related to achondroplasia?
Achondroplasia is caused by a gene alteration (mutation) in the FGFR3 gene. The FGFR3 gene makes a protein called fibroblast growth factor receptor 3 that is involved in converting cartilage to bone. FGFR3 is the only gene known to be associated with achondroplasia.
How is the diagnosis of achondroplasia made?
Achondroplasia is due to a mutation in the FGFR3 gene and has autosomal dominant inheritance pattern. The diagnosis can be made by invasive testing or cfDNA analysis of maternal blood. Follow-up scans every 4 weeks to monitor growth of the fetal head. Standard obstetric care and delivery. Homozygotic type: lethal due to severe pulmonary hypoplasia.
How does health supervision work for achondroplasia patients?
Health supervision for adults with achondroplasia, which includes genetic counseling, medical concerns and surveillance, and anticipatory guidance, is multifaceted. Health supervision requires specific management recommendations based on the scope of the disease and symptomatology of the patient.
Can a double dose of achondroplasia cause dominance?
As for many other so-called dominant processes, pure dominance (having one abnormal allele or having two such alleles resulting in indistinguishable phenotypes) is not observed. Rather, a ‘double dose’ of the achondroplasia-causing mutation results in a far more severe process [ 24 ].